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Редкий случай транстиретинового амилоидоза с поражением сердца и распространенными системными проявлениями
Редкий случай транстиретинового амилоидоза с поражением сердца и распространенными системными проявлениями
Болдуева С.А., Самохвалова М.В., Хомуло А.Д. и др. Редкий случай транстиретинового амилоидоза с поражением сердца и распространенными системными проявлениями. CardioСоматика. 2017; 8 (4): 42–46.
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Аннотация
В статье представлено описание редкого клинического случая транстиретинового амилоидоза у молодого пациента, протекающего с нарушениями ритма сердца и бивентрикуляторной сердечной недостаточностью.
Ключевые слова: амилоидоз транстиретиновый, хроническая сердечная недостаточность, периферическая нейропатия.
Key words: аmyloidosis transthyretinic, chronic heart failure, peripheral neuropathy.
Ключевые слова: амилоидоз транстиретиновый, хроническая сердечная недостаточность, периферическая нейропатия.
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Key words: аmyloidosis transthyretinic, chronic heart failure, peripheral neuropathy.
Полный текст
Список литературы
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2. Лутай М.И. и др. Амилоидоз сердца: трудный диагноз. Здоровая Украина. 2012; с. 34–7. / Lutai M.I. i dr. Amiloidoz serdtsa: trudnyi diagnoz. Zdorovaia Ukraina. 2012; s. 34–7. [in Russian]
3. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015; 66 (21): 2451–66.
4. Болдуева С.А., Самохвалова М.В., Богданова Е.В., Соловьева Т.C. Первичный системный амилоидоз с поражением сердца и коронарных артерий. Кардиология. 2010; 6: 92–4. / Boldueva S.A., Samokhvalova M.V., Bogdanova E.V., Solov'eva T.C. Pervichnyi sistemnyi amiloidoz s porazheniemserdtsa i koronarnykh arterii. Kardiologiia. 2010; 6: 92–4. [in Russian]
5. Connors LH, Prokaeva T, Lim A et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009; 158: 607–14.
6. Ng B, Connors LH, Davidoff R et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;165: 1425–9.
7. Ruberg FL, Maurer MS, Judge DP et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012; 164: 222–8.e1.
8. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42: 1785–91.
9. Ackermann EJ, Guo S, Booten S et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012; 19 (Suppl. 1): 43–4.
10. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8: 519–26.
11. Obici L, Cortese A, Lozza A et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19 (Suppl. 1): 34–6.
12. Wu SY, Lopez-Berestein G, Calin GA et al. RNAi therapies: drugging the undruggable. Sci Transl Med 2014; 6: 240ps7.
13. Benson MD. Liver transplantation and transthyretin amyloidosis. Muscle Nerve 2013; 47: 157–62.
14. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 2015; 21: 282–92.
15. Ericzon BG, Wilczek HE, Larsson M et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015;99: 1847–54.
16. Maia LF, Magalhes R, Freitas J et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86: 159–67.
17. Oshima T, Kawahara S, Ueda M et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014; 85: 740–6.
2. Lutai M.I. i dr. Amiloidoz serdtsa: trudnyi diagnoz. Zdorovaia Ukraina. 2012; s. 34–7. [in Russian]
3. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015; 66 (21): 2451–66.
4. Boldueva S.A., Samokhvalova M.V., Bogdanova E.V., Solov'eva T.C. Pervichnyi sistemnyi amiloidoz s porazheniemserdtsa i koronarnykh arterii. Kardiologiia. 2010; 6: 92–4. [in Russian]
5. Connors LH, Prokaeva T, Lim A et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009; 158: 607–14.
6. Ng B, Connors LH, Davidoff R et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;165: 1425–9.
7. Ruberg FL, Maurer MS, Judge DP et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012; 164: 222–8.e1.
8. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42: 1785–91.
9. Ackermann EJ, Guo S, Booten S et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012; 19 (Suppl. 1): 43–4.
10. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8: 519–26.
11. Obici L, Cortese A, Lozza A et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19 (Suppl. 1): 34–6.
12. Wu SY, Lopez-Berestein G, Calin GA et al. RNAi therapies: drugging the undruggable. Sci Transl Med 2014; 6: 240ps7.
13. Benson MD. Liver transplantation and transthyretin amyloidosis. Muscle Nerve 2013; 47: 157–62.
14. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 2015; 21: 282–92.
15. Ericzon BG, Wilczek HE, Larsson M et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015;99: 1847–54.
16. Maia LF, Magalhes R, Freitas J et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86: 159–67.
17. Oshima T, Kawahara S, Ueda M et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014; 85: 740–6.
2. Лутай М.И. и др. Амилоидоз сердца: трудный диагноз. Здоровая Украина. 2012; с. 34–7. / Lutai M.I. i dr. Amiloidoz serdtsa: trudnyi diagnoz. Zdorovaia Ukraina. 2012; s. 34–7. [in Russian]
3. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015; 66 (21): 2451–66.
4. Болдуева С.А., Самохвалова М.В., Богданова Е.В., Соловьева Т.C. Первичный системный амилоидоз с поражением сердца и коронарных артерий. Кардиология. 2010; 6: 92–4. / Boldueva S.A., Samokhvalova M.V., Bogdanova E.V., Solov'eva T.C. Pervichnyi sistemnyi amiloidoz s porazheniemserdtsa i koronarnykh arterii. Kardiologiia. 2010; 6: 92–4. [in Russian]
5. Connors LH, Prokaeva T, Lim A et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009; 158: 607–14.
6. Ng B, Connors LH, Davidoff R et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;165: 1425–9.
7. Ruberg FL, Maurer MS, Judge DP et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012; 164: 222–8.e1.
8. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42: 1785–91.
9. Ackermann EJ, Guo S, Booten S et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012; 19 (Suppl. 1): 43–4.
10. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8: 519–26.
11. Obici L, Cortese A, Lozza A et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19 (Suppl. 1): 34–6.
12. Wu SY, Lopez-Berestein G, Calin GA et al. RNAi therapies: drugging the undruggable. Sci Transl Med 2014; 6: 240ps7.
13. Benson MD. Liver transplantation and transthyretin amyloidosis. Muscle Nerve 2013; 47: 157–62.
14. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 2015; 21: 282–92.
15. Ericzon BG, Wilczek HE, Larsson M et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015;99: 1847–54.
16. Maia LF, Magalhes R, Freitas J et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86: 159–67.
17. Oshima T, Kawahara S, Ueda M et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014; 85: 740–6.
________________________________________________
2. Lutai M.I. i dr. Amiloidoz serdtsa: trudnyi diagnoz. Zdorovaia Ukraina. 2012; s. 34–7. [in Russian]
3. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015; 66 (21): 2451–66.
4. Boldueva S.A., Samokhvalova M.V., Bogdanova E.V., Solov'eva T.C. Pervichnyi sistemnyi amiloidoz s porazheniemserdtsa i koronarnykh arterii. Kardiologiia. 2010; 6: 92–4. [in Russian]
5. Connors LH, Prokaeva T, Lim A et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009; 158: 607–14.
6. Ng B, Connors LH, Davidoff R et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;165: 1425–9.
7. Ruberg FL, Maurer MS, Judge DP et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012; 164: 222–8.e1.
8. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42: 1785–91.
9. Ackermann EJ, Guo S, Booten S et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012; 19 (Suppl. 1): 43–4.
10. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8: 519–26.
11. Obici L, Cortese A, Lozza A et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19 (Suppl. 1): 34–6.
12. Wu SY, Lopez-Berestein G, Calin GA et al. RNAi therapies: drugging the undruggable. Sci Transl Med 2014; 6: 240ps7.
13. Benson MD. Liver transplantation and transthyretin amyloidosis. Muscle Nerve 2013; 47: 157–62.
14. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 2015; 21: 282–92.
15. Ericzon BG, Wilczek HE, Larsson M et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015;99: 1847–54.
16. Maia LF, Magalhes R, Freitas J et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86: 159–67.
17. Oshima T, Kawahara S, Ueda M et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014; 85: 740–6.
Авторы
С.А.Болдуева*1, М.В.Самохвалова1, А.Д.Хомуло1, В.В.Зайцев2, В.А.Маринин1, С.А.Винничук1
1 ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И.Мечникова» Минздрава России. 191015, Россия, Санкт-Петербург, ул. Кирочная, д. 41;
2 ФГБУ «Национальный медицинский исследовательский центр им. В.А.Алмазова» Минздрава России. 197341, Россия, Санкт-Петербург, ул. Аккуратова, д. 2
*svetlanaboldueva@mail.ru
1 I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation. 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41;
2 V.A.Almazov National Medical Research Center of the Ministry of Health of the Russian Federation. 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
*svetlanaboldueva@mail.ru
1 ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И.Мечникова» Минздрава России. 191015, Россия, Санкт-Петербург, ул. Кирочная, д. 41;
2 ФГБУ «Национальный медицинский исследовательский центр им. В.А.Алмазова» Минздрава России. 197341, Россия, Санкт-Петербург, ул. Аккуратова, д. 2
*svetlanaboldueva@mail.ru
________________________________________________
1 I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation. 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41;
2 V.A.Almazov National Medical Research Center of the Ministry of Health of the Russian Federation. 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
*svetlanaboldueva@mail.ru
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